Canonical Allele Identifier: CA408191876

Gene: FERMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6115809A>G , CM000682.2:g.6115809A>G	GRCh38
NC_000020.10:g.6096456A>G , CM000682.1:g.6096456A>G	GRCh37
NC_000020.9:g.6044456A>G	NCBI36
NG_016213.1:g.12736T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017671.5:c.385+2T>C MANE Select	NP_060141.3:n.385+2T>C
ENST00000217289.9:c.385+2T>C MANE Select	ENSP00000217289.4:n.385+2T>C
NM_017671.4:c.385+2T>C	NP_060141.3:n.385+2T>C
ENST00000217289.8:c.385+2T>C	ENSP00000217289.4:n.385+2T>C
ENST00000378844.1:c.385+2T>C	ENSP00000368121.1:n.385+2T>C
ENST00000536936.1:c.-173+2T>C	ENSP00000441063.1:n.-173+2T>C
ENST00000699095.1:c.385+2T>C	ENSP00000514127.1:n.385+2T>C
ENST00000699096.1:n.847+2T>C
ENST00000699098.1:c.385+2T>C	ENSP00000514312.1:n.385+2T>C
XM_024451935.1:c.385+2T>C	XP_024307703.1:n.385+2T>C